Gene
ARX
aristaless related homeobox
- HGNC 18060(opens in a new tab)
- Ensembl gene ENSG00000004848(opens in a new tab)
- NCBI Gene 170302(opens in a new tab)
Summary
- Cytogenetic location
- Xp21.3
- Coordinates
- Chromosome X: 25,003,694–25,015,965 (GRCh38)
- Exons
- 5 exons across 12.3 kb
- Protein
- 562 amino acids
- Also known as
- ISSX, CT121, EIEE1
- Previous symbols
- MRXS1, PRTS, MRX76, MRX54, MRX43, MRX36, MRX29, MRX32, MRX33, MRX38, MRX87
- MANE Select transcript
- ENST00000379044.5NM_139058.3
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
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Epilepsy (Full Panel)
- X-Linked Complex Neurodevelopmental Disorder
A complex neurodevelopmental disorder that is transmitted via X-linked inheritance, and is characterized by intellectual disability, autism and epilepsy.
- ClinGen rates the link definitive
- 2 GenCC submitters rate it definitive or strong
- Epilepsy
One of 171 genes linked to it
A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.
- ClinGen rates the link definitive
- 2 GenCC submitters rate it definitive or strong
How ARX is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 2.9 kb of the gene's 12.3 kb; 1,689 of those bases code for the protein.
How a genome test reads ARX
94
positions in ARX where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 12.3 kb of ARX, introns included, not only the 2.9 kb of exons.
Traits linked to ARX
The Human Phenotype Ontology lists these as features of the rare conditions ARX can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Agenesis of corpus callosum
- Delayed CNS myelination
- EEG with burst suppression
- Epilepsy
- Epileptic encephalopathy
- Generalized brain degeneration
- Global developmental delay
- Hypsarrhythmia
Show 59 more traits
- Infantile spasms
- Intellectual disability
- Intellectual disability, severe
- Poor eye contact
- Seizure affecting one half of brain
- Severe global developmental delay
- Tonic seizure
- Fewer and broader ridges in brain
- Focal motor seizure
- Generalized myoclonic seizure
- Jerking
- Limb dystonia
- Loss of developmental milestones
- Paralysis on one side of body
- Repeated seizures without recovery between them
- Abnormal gait
- Abnormal pyramidal sign
- Abnormality of the nervous system
- Difficulty articulating speech
- Difficulty sleeping
- EEG abnormality
- Erratic myoclonus
- Focal dystonia
- Focal tonic seizure
- Increased reflexes
- Intellectual disability, mild
- IQ between 34 and 49
- Lethargy
- Ventriculomegaly
- Autism spectrum disorder
- Babinski sign
- Behavioral abnormality
- Brief seizures with staring spells
- Choreoathetosis
- Decrease in size of the outer layer of the brain due to loss of brain cells
- Degeneration of cerebellum
- Delayed myelination
- Delayed speech and language development
- Diffuse cerebral atrophy
- Diffuse white matter abnormalities
- Disorder of involuntary muscle movements
- EEG with spike-wave complexes
- Episodic ataxia
- Febrile seizure (within the age range of 3 months to 6 years)
- Generalized clonic seizure
- Generalized tonic seizure
- Grand mal seizures
- More active than typical
- Paralysis of all four limbs
- Self-injurious behavior
- Sudden loss of muscle tone
- Tremor
- Underdevelopment of part of brain called corpus callosum
- Uni- and bilateral multifocal epileptiform discharges
- Dystonia
- Fewer or absent grooves in brain
- Gliosis
- Profound global developmental delay
- Specific learning disability
Abnormality of head or neck
- Abnormally small head
- Asymmetry of the posterior head
- Thin red part of the upper lip
- Triangular face
- Coarse facial features
- Broad opening between the eyelids
- Drooling
- Fullness around the eyes
Show 17 more traits
Abnormality of the genitourinary system
- Dysplastic testis
- Ambiguous external genitalia
- Underdeveloped penis
- Undescended testes
- Large testis
- Loss of bladder control
- Short penis
- Absent/small kidney
Show 4 more traits
Abnormality of the digestive system
- Feeding difficulties
- Malabsorption
- Poor suck
- Poor swallowing
- Enlarged colon lacking nerve cells
- Inability to properly digest food due to lack of pancreatic digestive enzymes
- Inguinal hernia
- Umbilical hernia
Show 2 more traits
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). ARX gene: aristaless related homeobox. Retrieved 16 October 2026, from https://dantelabs.com/genes/arx
Dante Labs. ARX gene: aristaless related homeobox [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/arx
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